Duchennes Muscular Dystrophy - Essay Example

Duchenne muscular dystrophy or Pseudohypertrophic muscular dystrophy or Muscular dystrophy- Duchenne type is an X-linked neuromuscular disorder of muscle caused by an absence of the protein dystrophin. DMD was named in recognition of Dr. G. Duchenne de Boulogne from France around 150 years ago. He was the first person to attribute the signs and symptoms to a distinct familial disease entity. The gene responsible for it is DMD gene which is known to be the largest gene encoding the muscle protein, dystrophin the discovery of this gene was made around 20 years ago.

Dystrophin provides structural stability to the dystroglycan complex (DGC) present on the cell membrane as it attaches with the inner surface of the muscle fiber membrane. A mutation in the DMD gene residing in Xp21 region of the X-chromosome, hampers the production of dystrophin protein causing progressive loss of muscle function and weakness (Partridge, 2007). It starts with the lower limbs and gradually covers the entire musculature. DMD is rapidly progressing form of muscular dystrophy affecting male with a frequency of 1 in 3500 infants (Chamberlain, 2006).

It is observed that the affected boys start manifesting symptoms of disease early in life usually before 5 years of age. They become powerless and are unable to walk and are restricted to wheel chair during their late childhood or early teen years. Patients usually develop various complications related with respiratory insufficiency and/ or cardiomyopathy as the disease progresses. Death occurs at by late teen age or in the early twenties (Chamberlin, 2006). It is essential to provide appropriate treatment to overcome the basic genetic defect, either through medical, surgical, and rehabilitative approaches to make the patient comfortable (Sussman, 2002).

SymptomsBefore the age of 6 years symptoms start becoming obvious, although they are visible in early infancy. There are three clinical stages: an ambulatory stage, an early nonambulatory stage, and a late nonambulatory stage.Ambulatory Stage- This is between two and four years of age, at this stage, symptoms start appearing. Symptoms show weakness of forward head flexion and a inadequate capability to sit up persist beyond infancy leading to poor motor development, deficient memory skills and they gradually reduce their ability to cope with their peers both physically and mentally.

Heel cord and elbow flexion contractures are also apparent. In rare cases, obstructive sleep apnea also develops along with facial soiling. The ECG readings show- Q waves leads in the lateral precordial while tall R and deep S waves leads in early precordial (Chamberlain, 2006). If glucocorticoids are not given then by the age of nine years, the child starts lacking ability to rise from supine to standing position and to climb stairs or arise from a chair and are able to ambulate with braces.

Early Nonambulatory Stage- This stage is between 10 and 12 years, the patient becomes dependent on wheel chair and flexion contractures at the ankle and elbow becomes more obvious. In this stage aquatic therapy may slow the progression. The dependency on wheel chair develops scoliosis and the patient needs orthopedic consultation along with radiological evaluation. The average strength of the patient starts declining at the age of 9 years.Late Nonambulatory Sta